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Intra\u2010 and interfamilial variability of the \u201cDOA\u2010plus\u201d phenotype is frequently observed in the majority of the patients carrying the same mutation in the <jats:italic>OPA1<\/jats:italic> gene. We are describing two familial cases of \u201cDOA\u2010plus\u201d carrying the same c.1334G&gt;A (p.Arg445His) mutation in <jats:italic>OPA1<\/jats:italic> and disclosing different clinical, pathological and biochemical features. The two patients showed different expression levels of the mitochondrial OMI\/HTRA2 molecule, which acts as a mitochondrial stress sensor and has been described to interplay with OPA1 in <jats:italic>in vitro<\/jats:italic> studies. Our data offer the cue to inquire the role of <jats:italic>OMI\/HTRA2<\/jats:italic> as a modifier gene in determining the \u201cDOAplus\u201d phenotype variability.<\/jats:p>","DOI":"10.1002\/ajmg.a.61381","type":"journal-article","created":{"date-parts":[[2019,10,14]],"date-time":"2019-10-14T10:24:01Z","timestamp":1571048641000},"page":"176-182","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Intrafamilial \u201cDOA\u2010plus\u201d phenotype variability related to different OMI\/HTRA2 expression"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1748-9629","authenticated-orcid":false,"given":"Filomena","family":"Napolitano","sequence":"first","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"},{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati\u2010Traverso\u201d National Research Council  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Terracciano","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati\u2010Traverso\u201d National Research Council  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Bruno","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Nesti","sequence":"additional","affiliation":[{"name":"Molecular Medicine Unit IRCCS Fondazione Stella Maris  Pisa 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